Primary Identifier | MGI:2387600 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 217214 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables L-glutamate N-acetyltransferase activity. Acts upstream of or within glutamate metabolic process. Located in mitochondrion. Human ortholog(s) of this gene implicated in N-acetylglutamate synthase deficiency and amino acid metabolic disorder. Orthologous to human NAGS (N-acetylglutamate synthase). PHENOTYPE: In the absence of N-carbamyl-L-glutamate and L-citrulline supplementation homozygous null mice develop severe hyperammonemia and die. [provided by MGI curators] |